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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name | Gene Symbol | Gene ID | Gene Name ▼ | UniProt ID |
|---|---|---|---|---|---|
| C2711227 | Steatohepatitis | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0752120 | Spinocerebellar Ataxia Type 1 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0028754 | Obesity | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C1864446 | Retinitis Pigmentosa 25 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0752123 | Spinocerebellar Ataxia Type 5 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0752121 | Spinocerebellar Ataxia Type 2 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0752122 | Spinocerebellar Ataxia Type 4 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C0009398 | Color vision defect | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0020757 | Ichthyoses | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0242383 | Age related macular degeneration | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0036572 | Seizures | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0456909 | Blindness | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0020620 | Hypohidrosis | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0265961 | Erythrokeratodermia variabilis | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C2239176 | Liver carcinoma | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C1838644 | Stargardt disease 3 | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0015397 | Disorder of eye | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C4282180 | Juvenile macular degeneration | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C1855465 | STARGARDT DISEASE 1 (disorder) | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C1858080 | Retinal Dystrophy, Early Onset Severe | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0028738 | Nystagmus | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C1851481 | Erythrokeratodermia with ataxia | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0024437 | Macular degeneration | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0524851 | Neurodegenerative Disorders | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C3489532 | Cone-Rod Dystrophy 2 | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
